Utah Birth Defects Network

The Utah Birth Defect Network (UBDN) is a partner program of the University of Utah and the Utah Department of Health, physically located in the Bureau of Children with Special Healthcare Needs within the Division of Family Health & Preparedness.  The mission of the UBDN is to prevent birth defects and secondary disabilities by monitoring occurrence, conducting research, and providing education and outreach.  Since its inception in 1994, the UBDN has expanded into a comprehensive statewide surveillance program identifying all major structural malformations with few exceptions, in all pregnancy outcomes.

In 1994, the UBDN began as the Neural Tube Defect Surveillance Project with the primary goal of evaluating a system of case ascertainment in order to expand the identification of additional malformations.  In 1995, oral facial clefts and the common trisomies were added as the next set of defects to be identified because of their prevalence, ability to be identified at birth and ease of ascertainment.  Expansion occurred again in 1997 with a fully implemented surveillance program in place by 1999.  The UBDN’s success is due in part to centralized services for both prenatal diagnosis and postnatal care providing opportunities for collaboration and ultimately case identification. 

Utah’s population census for 2008 was 2.7 million with a birth rate 45% higher than the U.S. birth rate and an annual birth frequency of approximately 55,000.  The majority (75%) of the population reside along the four county Wasatch Front, considered the urban area from Ogden in the north to Provo in the south with Salt Lake City midway between.  Rural counties present a challenge because of their distance from Salt Lake City, requiring overnight stays or long days for medical record abstraction.

The UBDN surveillance staff currently totals 4 FTEs with a small percentage of time committed to the program from experts in dysmorphology, pediatric cardiology and other specialties when requested.  The UBDN ascertains potential cases of malformations through multiple sources (n=131).   Champions (physician or nurse) from every delivery hospital were recruited at the onset to report live born cases occurring at their respective hospitals.  Since 1999, all labor and delivery, newborn nursery and neonatal intensive care logbooks are reviewed on a regular basis.  Additionally, prenatal diagnostic centers and genetic counselors assist in the identification of parentally diagnosed cases.  Every potential case is reviewed by a team of clinicians which includes expertise in dysmorphology, genetics, and cardiology.  During this review process each case is reviewed for minor and major congenital malformations, an assessment of etiology and pathogenesis is made and cases are classified according to the UBDN algorithm of isolated, multiple or syndromic.

Utah is currently one of eight Centers for Birth Defects Research and Prevention participating in the National Birth Defect Prevention Study.  This study is focused on birth defects with no known cause.  The UBDN is also involved in multiple other projects including the expansion of birth defect surveillance infrastructure to include newborn screening metabolic disorders, studies on cancer and birth defects, as well as quality of life for children living with craniofacial abnormalities. 

The UBDN has created a website http://www.health.utah.gov/birthdefect/ with information on specific birth defects and links to additional information for the families affected by birth defects as well as community healthcare providers.  Utah birth defects data is also published on the Utah Department of Health’s Indicator Based Information System for Public Health (IBIS-PH) http://ibis.health.utah.gov/ .